A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283615



Internal ID22381965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39352822..39352914hg38UCSC Ensembl
chr13:39926959..39927051hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2233n152
Supporting Variantsnssv14400808
SamplesNA19240
Known GenesLHFP
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3283615
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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